Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964904
rs121964904
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.840 GeneticVariation BEFREE Homozygosity for the single nucleotide change causing the C163S mutation is responsible for 98% of the AGU cases in Finland simplifying the carrier detection and prenatal diagnosis of the disorder in the Finnish population. 27906067

2016
dbSNP: rs121964904
rs121964904
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.840 GeneticVariation BEFREE A Cys-163 to serine substitution due to a point mutation in the glycosylasparaginase gene causes the most common disorder of glycoprotein degradation, the Finnish-type aspartylglycosaminuria. 7852406

1995
dbSNP: rs121964904
rs121964904
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.840 GeneticVariation BEFREE We have earlier reported a single missense mutation (Cys163----Ser) to be responsible for 98% of the AGU alleles in the isolated Finnish population, which contains about 90% of the reported AGU patients. 1722323

1991
dbSNP: rs121964904
rs121964904
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.840 GeneticVariation BEFREE Direct sequencing of amplified AGA cDNA from an AGU patient revealed a G----C transition resulting in the substitution of cysteine 163 with serine. 1703489

1991